MTMR2

Summary

MTMR2 (myotubularin related protein 2, HGNC:7450) is a protein-coding gene on chromosome 11q21, encoding Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 (Q13614). Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate.

This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene.

Source: NCBI Gene 8898 — RefSeq curated summary.

At a glance

• Gene–disease (curated): demyelinating hereditary motor and sensory neuropathy (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 6
• Clinical variants (ClinVar): 682 total — 34 pathogenic, 25 likely-pathogenic
• Phenotypes (HPO): 13
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_016156

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7450
Approved symbol	MTMR2
Name	myotubularin related protein 2
Location	11q21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1073
Ensembl gene	ENSG00000087053
Ensembl biotype	protein_coding
OMIM	603557
Entrez	8898

Gene structure

Transcript identifiers

Ensembl transcripts: 60 — 37 protein_coding, 11 nonsense_mediated_decay, 10 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000346299, ENST00000352297, ENST00000393223, ENST00000409459, ENST00000444541, ENST00000470011, ENST00000470293, ENST00000481642, ENST00000484818, ENST00000485988, ENST00000495134, ENST00000497683, ENST00000674528, ENST00000674610, ENST00000674901, ENST00000674924, ENST00000674950, ENST00000674968, ENST00000674974, ENST00000674989, ENST00000675022, ENST00000675024, ENST00000675030, ENST00000675034, ENST00000675174, ENST00000675196, ENST00000675237, ENST00000675288, ENST00000675320, ENST00000675362, ENST00000675413, ENST00000675438, ENST00000675454, ENST00000675477, ENST00000675489, ENST00000675495, ENST00000675636, ENST00000675652, ENST00000675660, ENST00000675767, ENST00000675807, ENST00000675848, ENST00000675896, ENST00000675910, ENST00000675922, ENST00000675933, ENST00000675957, ENST00000675981, ENST00000676027, ENST00000676146, ENST00000676166, ENST00000676177, ENST00000676261, ENST00000676268, ENST00000676272, ENST00000676378, ENST00000676388, ENST00000676393, ENST00000676432, ENST00000676440

RefSeq mRNA: 4 — MANE Select: NM_016156 NM_001243571, NM_016156, NM_201278, NM_201281

CCDS: CCDS8305, CCDS8306

Canonical transcript exons

ENST00000346299 — 15 exons

Exon	Start	End
ENSE00000000275	95832880	95835451
ENSE00001099209	95836148	95836324
ENSE00001099215	95838094	95838207
ENSE00001099218	95844953	95845159
ENSE00001099221	95849674	95849862
ENSE00001099223	95841617	95841709
ENSE00001099224	95850600	95850749
ENSE00001894742	95923875	95924107
ENSE00002688343	95847714	95847899
ENSE00003529003	95858531	95858632
ENSE00003541899	95862272	95862366
ENSE00003593724	95857552	95857635
ENSE00003626501	95865601	95865676
ENSE00003629693	95861992	95862102
ENSE00003690952	95888156	95888261

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 97.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.0784 / max 162.8225, expressed in 1800 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
121884	9.8724	1755
121882	8.9701	1694
121883	1.2541	905
121877	0.3274	72
121881	0.3218	153
121876	0.1426	52
121885	0.0854	25
121880	0.0521	31
121878	0.0404	24
121879	0.0120	4

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.61	gold quality
parotid gland	UBERON:0001831	96.79	gold quality
male germ cell	CL:0000015	95.98	gold quality
cartilage tissue	UBERON:0002418	94.24	gold quality
tibia	UBERON:0000979	93.45	gold quality
buccal mucosa cell	CL:0002336	93.02	gold quality
stromal cell of endometrium	CL:0002255	91.97	gold quality
calcaneal tendon	UBERON:0003701	91.86	gold quality
corpus callosum	UBERON:0002336	91.65	gold quality
tendon	UBERON:0000043	91.56	gold quality
choroid plexus epithelium	UBERON:0003911	91.51	gold quality
bronchial epithelial cell	CL:0002328	91.39	gold quality
islet of Langerhans	UBERON:0000006	90.76	gold quality
cortical plate	UBERON:0005343	90.65	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.43	gold quality
heart right ventricle	UBERON:0002080	90.29	gold quality
synovial joint	UBERON:0002217	90.19	gold quality
inferior vagus X ganglion	UBERON:0005363	90.02	gold quality
tendon of biceps brachii	UBERON:0008188	89.96	gold quality
spinal cord	UBERON:0002240	89.72	gold quality
embryo	UBERON:0000922	89.59	gold quality
postcentral gyrus	UBERON:0002581	89.35	gold quality
epithelium of bronchus	UBERON:0002031	89.23	gold quality
medial globus pallidus	UBERON:0002477	89.12	gold quality
Brodmann (1909) area 46	UBERON:0006483	89.09	gold quality
ganglionic eminence	UBERON:0004023	89.07	gold quality
saphenous vein	UBERON:0007318	88.98	gold quality
colonic mucosa	UBERON:0000317	88.96	gold quality
popliteal artery	UBERON:0002250	88.95	gold quality
mucosa of paranasal sinus	UBERON:0005030	88.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.44

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

108 targeting MTMR2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-5P	99.83	69.94	3230

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 23)

• MTMR2 shares similar phosphatase activity and substrate specificity than its homologous proteins MTM1 and MTMR3 (PMID:11846405)
• A homozygous cytosine to thymine missense mutation at nucleotide position 847, resulting in an amino acid substitution of arginine to tryptophan at codon 283, was detected in exon 9 of the MTMR2 gene (PMID:12398840)
• MTMR2 interacts with MTMR5 via its coiled-coil domain and that mutations in the coiled-coil domain of either MTMR2 or MTMR5 abrogate this interaction. (PMID:12668758)
• REVIEW : MTMR2 belongs to the myotubularin family of phosphoinositides phosphatases (PMID:12925573)
• crystal structure of MTMR2, a protein tyrosine phosphatase that is a member of the myotubularin-related protein family. (PMID:14690594)
• Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. (PMID:15998640)
• analysis of the molecular basis for this unique substrate specificity of human myotubularin-related protein-2 (MTMR2) in complex with phosphoinositides (PMID:16410353)
• Loss of MTMR2, by decreasing Schwann cells proliferation and survival, may impair the first stages of myelination of the peripheral nervous system (PMID:17336078)
• review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies (PMID:17880751)
• REVIEW : MTMR2 and homologous proteins are mutated in several neuromuscular diseases (PMID:18429927)
• A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex (PMID:18774718)
• Mutations in LITAF, RAB7, LMNA, and MTMR2 genes are rare in Chinese Charcot-Marie-Tooth disease (CMT) patients. (PMID:20709679)
• MTMR2 phosphorylation is likely to be a critical mechanism by which MTMR2 access to its lipid substrate(s) is temporally and spatially regulated, thereby contributing to the control of downstream endosome maturation events. (PMID:21372139)
• Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes. (PMID:21741241)
• these results reveal that MTMR2 compartmentalization and potential subsequent effects on endosome maturation and endosome signaling are dynamically regulated through MAPK-mediated differential phosphorylation events. (PMID:23378027)
• we identified a novel mutation in MTMR2 in a family with CMT4B1 and myelin outfoldings (PMID:23781969)
• The expression of the endogenous transcript is induced in a heterologous cell line by ectopically expressing SOX10, and is nearly ablated in Schwann cells by impairing SOX10 function. Intriguingly, overexpressing the two MTMR2 protein isoforms in HeLa cells revealed that both localize to nuclear puncta and the shorter isoform displays higher nuclear localization compared to the longer isoform (PMID:27466180)
• report the case of a Charcot-Marie-Tooth type 4B1 patient with a novel mutation in the MTMR2 gene (nonsense mutation in exon 6c.484 C>T; p.Arg162*) who started to experience stridor and was diagnosed with bilateral vocal cord paralysis at the age of 18 months - case report and review (PMID:28190646)
• Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. (PMID:28934386)
• Our findings suggest that MTMR2 is an important promoter in gastric cancer (GC) invasion and metastasis by inactivating IFNgamma/STAT1 signaling and may act as a new prognostic indicator and a potential therapeutic target for GC. (PMID:31113461)
• Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report. (PMID:32488727)
• MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1. (PMID:32767332)
• An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma. (PMID:37907649)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	mtmr2	ENSDARG00000004616
mus_musculus	Mtmr2	ENSMUSG00000031918
rattus_norvegicus	Mtmr2	ENSRNOG00000005923
drosophila_melanogaster	mtm	FBGN0025742
drosophila_melanogaster	Sbf	FBGN0025802
drosophila_melanogaster	Mtmr6	FBGN0028497
drosophila_melanogaster	CG14411	FBGN0030582
drosophila_melanogaster	CG3632	FBGN0030735
drosophila_melanogaster	CG5026	FBGN0035945
caenorhabditis_elegans	mtm-1	WBGENE00003475
caenorhabditis_elegans		WBGENE00003476
caenorhabditis_elegans		WBGENE00003477
caenorhabditis_elegans		WBGENE00003478
caenorhabditis_elegans		WBGENE00003479
caenorhabditis_elegans	mtm-10	WBGENE00021683

Paralogs (13): MTMR7 (ENSG00000003987), MTMR11 (ENSG00000014914), MTMR1 (ENSG00000063601), SBF1 (ENSG00000100241), MTMR3 (ENSG00000100330), MTMR8 (ENSG00000102043), MTMR9 (ENSG00000104643), MTMR4 (ENSG00000108389), SBF2 (ENSG00000133812), MTMR6 (ENSG00000139505), MTMR12 (ENSG00000150712), MTMR10 (ENSG00000166912), MTM1 (ENSG00000171100)

Protein

Protein identifiers

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2 — Q13614 (reviewed: Q13614)

Alternative names: Myotubularin-related protein 2, Phosphatidylinositol-3-phosphate phosphatase

All UniProt accessions (11): Q13614, A0A6Q8PF46, A0A6Q8PFL3, A0A6Q8PG25, A0A6Q8PGS5, A0A6Q8PGT1, A0A6Q8PGV9, A0A6Q8PHC4, A0A6Q8PHL9, A0A6Q8PHS7, C9JEX3

UniProt curated annotations — full annotation on UniProt →

Function. Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate. Regulates the level of these phosphoinositides critical for various biological processes including autophagy initiation and autophagosome maturation.

Subunit / interactions. Homodimer (via coiled-coil domain). Heterotetramer consisting of one MTMR2 dimer and one SBF2/MTMR13 dimer; specifically in peripheral nerves stabilizes SBF2/MTMR13 at the membranes and increases MTMR2 catalytic activity towards phosphatidylinositol 3,5-bisphosphate and to a lesser extent towards phosphatidylinositol 3-phosphate. Heterodimer with SBF1/MTMR5; acts as an adapter for the phosphatase MTMR2 to regulate MTMR2 catalytic activity and subcellular location. Heterodimer with MTMR12.

Subcellular location. Cytoplasm. Early endosome membrane. Perinuclear region. Cell projection. Axon. Endosome membrane.

Post-translational modifications. Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.

Disease relevance. Charcot-Marie-Tooth disease, demyelinating, type 4B1 (CMT4B1) [MIM:601382] A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The coiled-coil domain mediates homodimerization. Also mediates interaction with SBF1/MTMR5. By mediating MTMR2 homodimerization, indirectly involved in SBF2/MTMR13 and MTMR2 heterotetramerization. The GRAM domain mediates binding to phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate.

Similarity. Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q13614-1	1	yes
Q13614-2	2

RefSeq proteins (4): NP_001230500, NP_057240, NP_958435, NP_958438 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000387	Tyr_Pase_dom	Domain
IPR003595	Tyr_Pase_cat	Domain
IPR004182	GRAM	Domain
IPR010569	Myotubularin-like_Pase_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016130	Tyr_Pase_AS	Active_site
IPR029021	Prot-tyrosine_phosphatase-like	Homologous_superfamily
IPR030564	Myotubularin	Family

Pfam: PF02893, PF06602

Enzyme classification (BRENDA):

• EC 3.1.3.64 — phosphatidylinositol-3-phosphatase (BRENDA: 10 organisms, 32 substrates, 7 inhibitors, 2 Km, 0 kcat entries)
• EC 3.1.3.95 — phosphatidylinositol-3,5-bisphosphate 3-phosphatase (BRENDA: 2 organisms, 16 substrates, 1 inhibitors, 0 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
INOSITOL 1,3-BISPHOSPHATE	0.0008–0.0037	2

Catalyzed reactions (Rhea), 4 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:12316)
• a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:39019)
• 1,2-dioctanoyl-sn-glycero-3-phospho-(1-D-myo-inositol-3-phosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate (RHEA:42328)
• 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = 1,2-dioctanoyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate (RHEA:45632)

UniProt features (104 total): helix 25, binding site 21, strand 20, turn 12, mutagenesis site 7, compositionally biased region 5, modified residue 3, sequence variant 3, domain 2, region of interest 2, chain 1, active site 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
1ZSQ	X-RAY DIFFRACTION	1.82
1ZVR	X-RAY DIFFRACTION	1.98
1LW3	X-RAY DIFFRACTION	2.3
1M7R	X-RAY DIFFRACTION	2.6
5GNH	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13614-F1	89.44	0.81

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 417 (phosphocysteine intermediate)

Ligand- & substrate-binding residues (21): 330; 330; 355; 355; 356; 356; 418; 418; 419; 419; 420; 420 …

Post-translational modifications (3): 6, 9, 58

Mutagenesis-validated functional residues (7):

Position	Phenotype
330	decreased phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. decreased phosphatidylinositol-3-phosphate phosp
357	decreased phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. decreased phosphatidylinositol-3-phosphate phosp
417	loss of phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. loss of phosphatidylinositol-3-phosphate phosphata
419	no effect on phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. decreased phosphatidylinositol-3-phosphate ph
422	loss of phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity. loss of phosphatidylinositol-3-phosphate phosphata
589–643	loss of homodimerization. loss of interaction with sbf1.
607	decreased homodimerization. decreased interaction with sbf1.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-1483248	Synthesis of PIPs at the ER membrane
R-HSA-1660499	Synthesis of PIPs at the plasma membrane
R-HSA-1660516	Synthesis of PIPs at the early endosome membrane
R-HSA-1660517	Synthesis of PIPs at the late endosome membrane
R-HSA-1430728	Metabolism
R-HSA-1483255	PI Metabolism
R-HSA-1483257	Phospholipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 298 (showing top): GOBP_LIPID_MODIFICATION, GCM_MAP4K4, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOCC_VACUOLAR_MEMBRANE, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, ASTON_MAJOR_DEPRESSIVE_DISORDER_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_PROCESS, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, GOBP_CELLULAR_COMPONENT_MAINTENANCE, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS

GO Biological Process (16): negative regulation of receptor internalization (GO:0002091), phosphatidylinositol biosynthetic process (GO:0006661), negative regulation of myelination (GO:0031642), myelin assembly (GO:0032288), negative regulation of endocytosis (GO:0045806), phosphatidylinositol dephosphorylation (GO:0046856), neuron development (GO:0048666), regulation of phosphatidylinositol dephosphorylation (GO:0060304), negative regulation of excitatory postsynaptic potential (GO:0090394), dendritic spine maintenance (GO:0097062), positive regulation of early endosome to late endosome transport (GO:2000643), negative regulation of receptor catabolic process (GO:2000645), lipid metabolic process (GO:0006629), dephosphorylation (GO:0016311), myelination (GO:0042552), phosphatidylinositol metabolic process (GO:0046488)

GO Molecular Function (6): phosphatidylinositol-3-phosphate phosphatase activity (GO:0004438), identical protein binding (GO:0042802), phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629), protein binding (GO:0005515), hydrolase activity (GO:0016787), phosphatidylinositol phosphate phosphatase activity (GO:0052866)

GO Cellular Component (18): nucleus (GO:0005634), cytoplasm (GO:0005737), vacuolar membrane (GO:0005774), cytosol (GO:0005829), synaptic vesicle (GO:0008021), postsynaptic density (GO:0014069), membrane (GO:0016020), axon (GO:0030424), dendrite (GO:0030425), early endosome membrane (GO:0031901), dendritic spine (GO:0043197), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), synaptic membrane (GO:0097060), endosome (GO:0005768), endosome membrane (GO:0010008), endomembrane system (GO:0012505), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
PI Metabolism	4
Phospholipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
phosphatidylinositol metabolic process	2
myelination	2
vacuole	2
bounding membrane of organelle	2
cytoplasm	2
neuron projection	2
regulation of receptor internalization	1
receptor internalization	1
negative regulation of receptor-mediated endocytosis	1
biosynthetic process	1
regulation of myelination	1
negative regulation of nervous system process	1
negative regulation of cellular process	1
cellular component assembly involved in morphogenesis	1
endocytosis	1
regulation of endocytosis	1
negative regulation of transport	1
negative regulation of cellular component organization	1
phospholipid dephosphorylation	1
neuron differentiation	1
cell development	1
regulation of lipid metabolic process	1
regulation of dephosphorylation	1
phosphatidylinositol dephosphorylation	1
regulation of phosphorus metabolic process	1
regulation of macromolecule metabolic process	1
negative regulation of biological process	1
excitatory postsynaptic potential	1
modulation of excitatory postsynaptic potential	1
cellular component maintenance	1
dendritic spine organization	1
positive regulation of intracellular transport	1
early endosome to late endosome transport	1
regulation of early endosome to late endosome transport	1
negative regulation of catabolic process	1
negative regulation of macromolecule metabolic process	1
receptor catabolic process	1
regulation of receptor catabolic process	1
primary metabolic process	1

Protein interactions and networks

STRING

980 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MTMR2	SBF2	Q86WG5	919
MTMR2	NEFL	P07196	873
MTMR2	TPTE2	Q6XPS3	861
MTMR2	DLG4	P78352	848
MTMR2	PIK3C3	Q8NEB9	810
MTMR2	PRX	Q9BXM0	799
MTMR2	SH3TC2	Q8TF17	779
MTMR2	FIG4	Q92562	771
MTMR2	SBF1	O95248	771
MTMR2	GJB1	P08034	749
MTMR2	PMP22	Q01453	723
MTMR2	GDAP1	Q8TB36	720
MTMR2	FGD4	Q96M96	709
MTMR2	MPZL1	O95297	685
MTMR2	MADD	Q8WXG6	625

IntAct

32 interactions, top by confidence:

A	B	Type	Score
CCDC22	VPS26C	psi-mi:“MI:0914”(association)	0.790
MTMR2	CCDC22	psi-mi:“MI:0914”(association)	0.730
MTMR12	MTMR2	psi-mi:“MI:0407”(direct interaction)	0.690
CCDC22	ZWINT	psi-mi:“MI:0914”(association)	0.530
MTMR1	GMNN	psi-mi:“MI:0914”(association)	0.530
MTMR9	CENPF	psi-mi:“MI:0914”(association)	0.530
MTMR2	NEFL	psi-mi:“MI:0915”(physical association)	0.510
SBF2	SBF1	psi-mi:“MI:0914”(association)	0.420
MTMR2	ERBB4	psi-mi:“MI:0915”(physical association)	0.370
MTMR2	ERBB3	psi-mi:“MI:0915”(physical association)	0.370
MTMR2	ROR2	psi-mi:“MI:0915”(physical association)	0.370
M		psi-mi:“MI:0914”(association)	0.350
MTMR11	IRS4	psi-mi:“MI:0914”(association)	0.350
MTMR9	DSP	psi-mi:“MI:0914”(association)	0.350
SBF1	COL1A2	psi-mi:“MI:0914”(association)	0.350
MTMR2	LUC7L3	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
SCHIP1	VWA8	psi-mi:“MI:0914”(association)	0.350
MTRF1	MEIS1	psi-mi:“MI:0914”(association)	0.350
SBF2	PMPCB	psi-mi:“MI:2364”(proximity)	0.270
DISC1	MTMR2	psi-mi:“MI:0915”(physical association)	0.000
CASS4	MTMR2	psi-mi:“MI:0915”(physical association)	0.000
tcaA1	MTMR2	psi-mi:“MI:0915”(physical association)	0.000
	MTMR2	psi-mi:“MI:0915”(physical association)	0.000
metQ	MTMR2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (109): MTMR2 (Affinity Capture-RNA), MTMR2 (Affinity Capture-MS), CCDC22 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS), MTMR10 (Affinity Capture-MS), MTMR12 (Affinity Capture-MS), NFKB1 (Affinity Capture-MS), SBF1 (Affinity Capture-MS), SBF2 (Affinity Capture-MS), TUBA1B (Affinity Capture-MS), MTMR2 (Affinity Capture-MS), MTMR2 (Affinity Capture-MS), MTMR2 (Affinity Capture-MS), MTMR2 (Proximity Label-MS), MTMR2 (Affinity Capture-MS)

ESM2 similar proteins: A0JMK5, A6QLT2, A6QQZ7, O08586, O43242, O43795, O54857, O55236, O60733, O60942, P11029, P11497, P14685, P23727, P26450, P27986, P29074, P46735, P60483, P60484, P97570, P97819, Q05096, Q13085, Q13613, Q13614, Q15139, Q28559, Q2KJ46, Q52KU6, Q5BJZ6, Q5EB32, Q5F452, Q5R685, Q5R6F6, Q5R8Q7, Q5REB9, Q5SWU9, Q5T2T1, Q5U2Y3

Diamond homologs: A0A0G2JXT6, A0JMK5, A2BGG1, A4FU01, A6QLT2, A6QLT4, A7MB43, E9PXF8, F4J3T8, F4JWB3, G5ED68, O13819, P47147, Q13496, Q13613, Q13614, Q13615, Q22712, Q2KJ24, Q3V1L6, Q52KU6, Q54GQ1, Q55E58, Q5EB32, Q5F452, Q5PQT2, Q5R6F6, Q5R9S3, Q5REB9, Q5U581, Q5ZIV1, Q6AXQ4, Q6NTN5, Q6NU08, Q6TEL0, Q7TPM9, Q7ZXF1, Q80TA6, Q8K296, Q8VE11

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
MTMR2	“down-regulates quantity”	“1-phosphatidyl-1D-myo-inositol 3-phosphate(3-)”	“chemical modification”
MTMR2	“up-regulates quantity”	1-phosphatidyl-1D-myo-inositol(1-)	“chemical modification”
SBF1	“up-regulates activity”	MTMR2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 32 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
PI Metabolism	5	85.0×	4e-07
Phospholipid metabolism	5	47.7×	4e-06
Metabolism of lipids	6	9.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

682 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	34
Likely pathogenic	25
Uncertain significance	288
Likely benign	231
Benign	51

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1069360	NM_016156.6(MTMR2):c.1318C>T (p.Arg440Ter)	Pathogenic
1070808	NM_016156.6(MTMR2):c.1459_1460del (p.Val487fs)	Pathogenic
1803781	NM_016156.6(MTMR2):c.304C>T (p.Arg102Ter)	Pathogenic
2038889	NM_016156.6(MTMR2):c.928_929insTGATATTTACTGAGTACAGTAA (p.Asn310fs)	Pathogenic
216114	NM_016156.6(MTMR2):c.1034del (p.Asn345fs)	Pathogenic
2190463	NM_016156.6(MTMR2):c.484C>T (p.Arg162Ter)	Pathogenic
241077	NM_016156.6(MTMR2):c.832C>T (p.Gln278Ter)	Pathogenic
2637502	NM_016156.6(MTMR2):c.1096del (p.Lys367fs)	Pathogenic
2819176	NM_016156.6(MTMR2):c.579dup (p.Ala194fs)	Pathogenic
2839875	NM_016156.6(MTMR2):c.947dup (p.Phe317fs)	Pathogenic
3011357	NM_016156.6(MTMR2):c.37C>T (p.Gln13Ter)	Pathogenic
3244697	NC_000011.9:g.(?95568454)(95657118_?)del	Pathogenic
3658204	NM_016156.6(MTMR2):c.1693del (p.Tyr565fs)	Pathogenic
3659428	NM_016156.6(MTMR2):c.934C>T (p.Gln312Ter)	Pathogenic
3666754	NM_016156.6(MTMR2):c.1474A>T (p.Arg492Ter)	Pathogenic
406679	NM_016156.6(MTMR2):c.1537_1538dup (p.Ser514fs)	Pathogenic
543342	NM_016156.6(MTMR2):c.464_465del (p.Val154_Cys155insTer)	Pathogenic
549685	NM_016156.6(MTMR2):c.1164G>A (p.Trp388Ter)	Pathogenic
6231	NM_016156.6(MTMR2):c.1276C>T (p.Gln426Ter)	Pathogenic
6233	NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter)	Pathogenic
623390	NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)	Pathogenic
6234	NM_016156.6(MTMR2):c.1444C>T (p.Gln482Ter)	Pathogenic
637472	NM_016156.6(MTMR2):c.1593+1G>A	Pathogenic
646293	NM_016156.6(MTMR2):c.454_458del (p.Glu152fs)	Pathogenic
647003	NM_016156.6(MTMR2):c.1454_1457del (p.Asp485fs)	Pathogenic
684408	NM_016156.6(MTMR2):c.1490dup (p.Phe498fs)	Pathogenic
684409	NM_016156.6(MTMR2):c.1479+1G>A	Pathogenic
684410	NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)	Pathogenic
684411	NM_016156.6(MTMR2):c.883C>T (p.Arg295Ter)	Pathogenic
859440	NM_016156.6(MTMR2):c.874del (p.Ser292fs)	Pathogenic

SpliceAI

3358 predictions. Top by Δscore:

Variant	Effect	Δscore
11:95827784:A:AG	acceptor_gain	1.0000
11:95827785:G:GA	acceptor_gain	1.0000
11:95828024:GCTT:G	donor_gain	1.0000
11:95828028:G:GG	donor_gain	1.0000
11:95829181:A:AG	acceptor_gain	1.0000
11:95829182:T:G	acceptor_gain	1.0000
11:95829182:TATA:T	acceptor_loss	1.0000
11:95829183:A:AG	acceptor_gain	1.0000
11:95829183:ATAGT:A	acceptor_gain	1.0000
11:95829184:T:G	acceptor_gain	1.0000
11:95829185:A:AG	acceptor_gain	1.0000
11:95829185:AGT:A	acceptor_gain	1.0000
11:95829185:AGTG:A	acceptor_loss	1.0000
11:95829186:G:GT	acceptor_gain	1.0000
11:95829186:GT:G	acceptor_gain	1.0000
11:95829186:GTG:G	acceptor_gain	1.0000
11:95829186:GTGA:G	acceptor_gain	1.0000
11:95829186:GTGAT:G	acceptor_gain	1.0000
11:95829327:CCCAG:C	donor_loss	1.0000
11:95829328:CCAG:C	donor_loss	1.0000
11:95829329:CAG:C	donor_loss	1.0000
11:95829330:AGGT:A	donor_loss	1.0000
11:95829331:GG:G	donor_loss	1.0000
11:95829333:T:A	donor_loss	1.0000
11:95831005:T:TA	acceptor_gain	1.0000
11:95831010:T:TA	acceptor_gain	1.0000
11:95831011:G:A	acceptor_gain	1.0000
11:95831015:ATTT:A	acceptor_gain	1.0000
11:95831018:T:A	acceptor_gain	1.0000
11:95831023:TAGCT:T	acceptor_loss	1.0000

AlphaMissense

4207 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:95845078:A:G	W421R	1.000
11:95845078:A:T	W421R	1.000
11:95845080:C:A	G420V	1.000
11:95845080:C:T	G420D	1.000
11:95845081:C:G	G420R	1.000
11:95845085:A:C	S418R	1.000
11:95845085:A:T	S418R	1.000
11:95845087:T:G	S418R	1.000
11:95845088:G:C	C417W	1.000
11:95845089:C:T	C417Y	1.000
11:95845090:A:G	C417R	1.000
11:95847731:A:G	W388R	1.000
11:95847731:A:T	W388R	1.000
11:95847824:G:C	H357D	1.000
11:95847828:A:C	N355K	1.000
11:95847828:A:T	N355K	1.000
11:95849681:G:T	A329D	1.000
11:95849687:G:T	A327D	1.000
11:95849705:G:T	A321D	1.000
11:95849772:C:G	D299H	1.000
11:95849807:G:T	P287H	1.000
11:95850618:T:A	R262S	1.000
11:95850618:T:G	R262S	1.000
11:95850619:C:A	R262I	1.000
11:95850619:C:G	R262T	1.000
11:95850731:A:G	W225R	1.000
11:95850731:A:T	W225R	1.000
11:95858613:A:G	F163S	1.000
11:95862321:C:T	G103E	1.000
11:95862322:C:G	G103R	1.000

dbSNP variants (sampled 300 via entrez): RS1000064185 (11:95924321 G>A), RS1000075635 (11:95865254 C>T), RS1000086525 (11:95924415 G>C), RS1000096018 (11:95878730 C>T), RS1000126044 (11:95899267 C>G), RS1000134942 (11:95924479 A>G), RS1000159667 (11:95849273 G>A), RS1000183960 (11:95839855 G>A,C), RS1000262258 (11:95891019 T>C), RS1000299248 (11:95872112 T>A,C), RS1000309032 (11:95885562 G>A), RS1000329838 (11:95892388 C>T), RS1000331186 (11:95877908 G>A,T), RS1000350233 (11:95842309 T>C), RS1000372546 (11:95834327 C>A,T)

Disease associations

OMIM: gene MIM:603557 | disease phenotypes: MIM:601382, MIM:118220

GenCC curated gene-disease

Disease	Classification	Inheritance
demyelinating hereditary motor and sensory neuropathy	Definitive	Autosomal recessive
Charcot-Marie-Tooth disease type 4B1	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
demyelinating hereditary motor and sensory neuropathy	Definitive	AR

Mondo (4): Charcot-Marie-Tooth disease type 4 (MONDO:0018995), Charcot-Marie-Tooth disease type 4B1 (MONDO:0011066), Charcot-Marie-Tooth disease (MONDO:0015626), demyelinating hereditary motor and sensory neuropathy (MONDO:0018776)

Orphanet (3): Charcot-Marie-Tooth disease type 4 (Orphanet:64749), Charcot-Marie-Tooth disease type 4B1 (Orphanet:99955), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001270	Motor delay
HP:0001762	Talipes equinovarus
HP:0002460	Distal muscle weakness
HP:0002650	Scoliosis
HP:0002936	Distal sensory impairment
HP:0003431	Decreased motor nerve conduction velocity
HP:0003693	Distal amyotrophy
HP:0003701	Proximal muscle weakness
HP:0004336	Myelin outfoldings
HP:0006958	Abnormal auditory evoked potentials
HP:0007208	Irregular myelin loops
HP:0010628	Facial palsy

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST008161_29	Waist circumference adjusted for body mass index	1.000000e-06
GCST009615_13	Triglyceride levels x loop diuretics use interaction	1.000000e-06
GCST011534_2	Sun-seeking behavior	4.000000e-09
GCST90000025_173	Appendicular lean mass	5.000000e-15
GCST90002390_40	Mean corpuscular hemoglobin	6.000000e-14
GCST90002404_523	Red cell distribution width	1.000000e-20

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004530	triglyceride measurement
EFO:0010729	sun exposure measurement
EFO:0004980	appendicular lean mass
EFO:0004527	mean corpuscular hemoglobin
EFO:0009188	Red cell distribution width

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
C535420	Charcot-Marie-Tooth disease, Type 4B1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

37 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression	4
(+)-JQ1 compound	decreases expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression, increases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases expression	1
butyraldehyde	decreases expression	1
coumarin	increases phosphorylation	1
1-nitropyrene	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression	1
Arsenic Trioxide	decreases expression	1
Air Pollutants	affects expression, increases abundance, decreases methylation	1
Caffeine	affects phosphorylation	1
Camptothecin	decreases response to substance	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Doxorubicin	decreases expression	1
Drugs, Chinese Herbal	increases expression	1
Ivermectin	decreases expression	1
Ketoconazole	decreases expression	1
Naled	affects expression	1
Naphthoquinones	increases expression	1
Nitrogen Oxides	affects expression, increases abundance, decreases methylation	1
Rotenone	increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1XV	Abcam HeLa MTMR2 KO	Cancer cell line	Female
CVCL_SZ27	HAP1 MTMR2 (-) 1	Cancer cell line	Male
CVCL_SZ28	HAP1 MTMR2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

59 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04762758	PHASE3	UNKNOWN	Phase III Trial Assessing the Efficacy and Safety of PXT3003 in CMT1A Patients
NCT00271635	PHASE2	COMPLETED	Ascorbic Acid Treatment in CMT1A Trial (AATIC)
NCT01401257	PHASE2	COMPLETED	Phase II, Randomized, Placebo-controlled Trial in Patients With Charcot-marie-tooth Disease Type 1A
NCT02561702	PHASE2	COMPLETED	Mexiletine for Muscle Cramps in Charcot Marie Tooth Disease
NCT02967679	PHASE2	COMPLETED	SERENDEM : MD1003 in Patients Suffering From Demyelinating Neuropathies, an Open Label Pilot Study
NCT03124459	PHASE2	TERMINATED	Study of ACE-083 in Patients With Charcot-Marie-Tooth Disease
NCT03254199	PHASE2	TERMINATED	A Study to Assess the Safety and Effectiveness of FLX-787 in Subjects With Charcot-Marie-Tooth Disease Experiencing Muscle Cramps.
NCT03943290	PHASE2	TERMINATED	Extension Study to Evaluate the Long-Term Effects of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD) and Charcot-Marie Tooth (CMT) Disease Types 1 and X (CMT1 and CMTX)
NCT05777226	PHASE2	UNKNOWN	Research of SORD-CMT Natural History and Epalrestat Treatment
NCT06482437	PHASE2	COMPLETED	Safety and Efficacy of NMD670 in Adult Patients With Type 1 and Type 2 Charcot-Marie-Tooth Disease
NCT05902351	Not specified	RECRUITING	Natural History Study for Charcot Marie Tooth Disease
NCT01289704	PHASE2/PHASE3	UNKNOWN	Treadmill, Stretching and Proprioceptive Exercise (TreSPE) Rehabilitation Program for Charcot-Marie-Tooth Neuropathy Type 1A (CMT1A)
NCT00541164	PHASE1/PHASE2	COMPLETED	Effects of Coenzyme Q10 on Charcot-Marie-Tooth Disease
NCT05361031	PHASE1/PHASE2	COMPLETED	The Safety and Tolerability of Engensis (VM202) in Patients With Charcot-Marie-Tooth Disease Subtype 1A (CMT1A)
NCT07223632	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient
NCT00149045	Not specified	COMPLETED	Follow up and Observation of Charcot Marie Tooth Disease in Families
NCT01193075	Not specified	RECRUITING	Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Types CMT1B, CMT2A, CMT4A, CMT4C, and Others
NCT01203085	Not specified	COMPLETED	Development of Charcot Marie Tooth Disease (CMT) Pediatric Scale for Children With CMT
NCT01455623	Not specified	COMPLETED	Development and Validation of a Disability Severity Index for CMT
NCT01918826	Not specified	UNKNOWN	Evaluation of the Analgesic Efficiency of the Transcutaneous Neurostimulation in the Charcot Syndrome Marie Tooth on the Pains of Lower Limbs
NCT02001038	Not specified	COMPLETED	Survey of Current Management of Orthopaedic Complications in CMT Patients
NCT02011204	Not specified	COMPLETED	Study of Electrical Impedance Myography (EIM) in ALS
NCT02194010	Not specified	COMPLETED	Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
NCT02429947	Not specified	COMPLETED	An Analysis of the Symptomatic Domains Most Relevant to Charcot Marie Tooth Neuropathy (CMT) Patients
NCT02532244	Not specified	COMPLETED	Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT02788734	Not specified	COMPLETED	Patient Reported Outcomes Measures (PROM) in Carpal Tunnel Therapies in Patients With Inherited Neuropathies
NCT02979145	Not specified	UNKNOWN	Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project
NCT03460951	Not specified	COMPLETED	Diffusion Tensor Imaging in Chronic Inflammatory Demyelinating Polyneuropathy (PIDC)
NCT03715283	Not specified	COMPLETED	Change in MUNIX in Patients With CMT1A Undergoing a Home Ankle Strengthening Program Versus Standard of Care
NCT03782883	Not specified	COMPLETED	The Impact of Charcot-Marie-Tooth Disease in the Real World
NCT03810508	Not specified	TERMINATED	A Natural History Study of Charcot-Marie-Tooth 4J (CMT4J)
NCT03966287	Not specified	COMPLETED	Analysis of Pain and Quality of Life in Patients With Charcot-Marie-Tooth Neuropathy (CMT)
NCT04010188	Not specified	RECRUITING	A Registered Cohort Study on Charcot-Marie-Tooth Disease
NCT04283175	Not specified	COMPLETED	Validation Study of Posturology Platforms for Evaluating Postural Control of Hemiparetic and Neuro-muscular Patients
NCT04461613	Not specified	UNKNOWN	Physical Activity in Persons With Charcot-Marie-Tooth: Developing a Measurement Instrument
NCT04786522	Not specified	COMPLETED	Irisin Levels in Patients With Charcot-Marie-Tooth (CMT) Disease
NCT04967716	Not specified	UNKNOWN	Genetics of Charcot-Marie-Tooth Dystrophy and Related Diseases
NCT04980807	Not specified	COMPLETED	Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls